Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) (Q24673053)

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27 October 2019

title

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) (English)

1 reference

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juvenile neuronal ceroid lipofuscinosis

27 October 2019

main subject

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author

Sara E. Mole

6

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27 October 2019

author name string

P E Taschner

1

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27 October 2019

N de Vos

2

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27 October 2019

A D Thompson

3

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27 October 2019

D F Callen

4

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27 October 2019

N Doggett

5

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27 October 2019

T P Dooley

7

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27 October 2019

P G Barth

8

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27 October 2019

M H Breuning

9

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27 October 2019

language of work or name

English

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publication date

1 March 1995

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American Journal of Human Genetics

27 October 2019

published in

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27 October 2019

volume

56

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27 October 2019

issue

3

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27 October 2019

page(s)

663-668

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Unusual variability of the complex dinucleotide repeat block at the SPN locus

27 October 2019

cites work

1 reference

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Molecular characterisation of a human aryl sulfotransferase cDNA

7 April 2017

1 reference

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Sequence analysis and expression of the cDNA for the phenol-sulfating form of human liver phenol sulfotransferase

7 April 2017

1 reference

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Identification of two human brain aryl sulfotransferase cDNAs

7 April 2017

1 reference

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Mapping of the phenol sulfotransferase gene (STP) to human chromosome 16p12.1-p11.2 and to mouse chromosome 7

7 April 2017

1 reference

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Incidence and origin of "null" alleles in the (AC)n microsatellite markers.

7 April 2017

1 reference

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A first-generation physical map of the human genome

28 September 2017

1 reference

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Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

28 September 2017

1 reference

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Physical mapping of human chromosomes by repetitive sequence fingerprinting

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

28 September 2017

1 reference

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Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

28 September 2017

1 reference

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Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Dinucleotide repeat polymorphism at the D16S288 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Dinculeotide repear polymorphisms at the D16S164, D16S168 and D16S186 loci at 1621-q22.1

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Evaluation of a cosmid contig physical map of human chromosome 16

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801154

Mapping of human chromosome 5 microsatellite DNA polymorphisms

28 September 2017

1 reference

12 December 2020

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

1 reference

12 December 2020

Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16

1 reference

12 December 2020

Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

1 reference

12 December 2020

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

1 reference

12 December 2020

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887420%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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